Lysosomal glycogen storage disease without acid maltase deficiency. A lectin-histochemical study of an unusual type of lysosomal glycogen storage disease.
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چکیده
منابع مشابه
[Lysosomal glycogen storage disease without acid maltase deficiency].
Lysosomal glycogen storage disease without acid maltase deficiency is characterized by the triad of clinical manifestations (hypertrophic cardiomyopathy), mental retardation, and mild myopathy), morphologic findings (glycogen storage, glycogenosomes, and autophagic vacuoles), and normal glycolytic enzyme activities. Though most of the patients suffering from the triad were males, family studies...
متن کاملlysosomal storage disease (lsds)
how to cite this article: ghofrani m. lysosomal storage disease (lsds). iran j child neurol. 2015 autumn;9:4(suppl.1): 1. pls see pdf.
متن کاملApparent normal leukocyte acid maltase activity in glycogen storage disease type II (Pompe's disease).
We present a case of glycogen storage disease type II (Pompe's disease) with the classical clinical presentation and characteristic electrocardiographic changes of this disorder. An acid maltase (EC 3.2.1.20) determination in the peripheral leukocytes revealed normal activity; however, acid maltase activity was completely absent in a pre-mortem skeletal muscle biopsy. Post-mortem studies showed...
متن کاملlysosomal storage disease
how to cite this article: ghofrani m. lysosomal storage disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):1-2. for reading more pls see pdf
متن کاملGlycogen storage disease (type-III).
Glycogen storage disease (GSD) type III is caused by deficiency of the enzyme amylo-1,6 glucosidase (debranching enzyme) leading to the storage of an abnormal glycogen with short outer chains called limit dextrins(l). Clinical manifestations are usually due to decreased hepatic glycogenolysis and occasionally due to a myopathy associated with an increase in muscle glycogen. We report a case of ...
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ژورنال
عنوان ژورنال: ACTA HISTOCHEMICA ET CYTOCHEMICA
سال: 1991
ISSN: 0044-5991,1347-5800
DOI: 10.1267/ahc.24.603